RGD:11642195 Rat Genome Database

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Variant: RGD:11642195 -  Homo sapiens

RGD ID: 11642195
RS ID: rs749611100
ClinVar ID: CV265707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B9D2  LOC127891595  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 41,860,637
GRCh38 19 41,354,732
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013091.1:g.14442C>T
NC_000019.10:g.41354732G>A
NC_000019.9:g.41860637G>A
NP_085055.2:p.Arg166Cys
More... 		06/26/2015 missense variant uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B9D2
Accession:XM_011527350
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYWSHPIDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQ
LLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLCNFDRYGVEC*

Gene Symbol:B9D2
Accession:NM_030578
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQV
WSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
IGLLLCNFDRYGVEC*

Gene Symbol:B9D2
Accession:XM_011527349
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQV
WSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
IGLLLCNFDRYGVEC*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000368498 CLINVAR
  RCV003992258 CLINVAR
  RCV004021078 CLINVAR
dbSNP (RS) rs749611100 CLINVAR
MedGen C3280036 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene B9D2 CLINVAR
OMIM 611951 CLINVAR
  614175 CLINVAR